Results 131 to 140 of about 3,282,242 (309)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Microenvironmental Reprogramming by 3D Anisotropic Cardiac Extracellular Matrix Induces Nuclear Remodeling and Epigenetic Maturation of Chemically Induced Cardiomyocytes

Advanced Functional Materials, EarlyView.
A 3D anisotropic hydrogel derived from heart extracellular matrix guides cytoskeletal alignment and nuclear remodeling in reprogrammed cardiomyocyte‐like cells. This study reveals how matrix alignment modulates nuclear envelope dynamics and chromatin state, triggering transcriptional and functional maturation.
Seung Ju Seo, Mi Jeong Lee, Hyun Wook Kang, Seonhee Byeon, Soo‐Kyoung Choi, Nakwon Choi, Seung‐Woo Cho, Yoonhee Jin   +7 more
wiley   +1 more source

Circulating cell-free mitochondrial DNA for diagnosing hepatocellular carcinoma and assessing prognosis: Editorial on “Aberrant fragmentomic features of circulating cell-free mitochondrial DNA enable early detection and prognosis prediction of hepatocellular carcinoma” [PDF]

Clinical and Molecular Hepatology
Hyuk soo Eun
doaj   +1 more source

Chamber‐Specific Decellularized Extracellular Matrices Differentially Modulate Cardiomyocyte Subtypes to Drive Engineered Heart Tissue Development and Function

Advanced Healthcare Materials, EarlyView.
Chamber‐specific decellularized extracellular matrices (ECMs) were developed, preserving native proteomic profiles of ventricular and atrial myocardium. These innate biochemical cues differentially modulate cardiomyocyte subtypes to drive engineered heart tissue development and function, highlighting the importance of incorporating regional ECM cues in
Dong Gyu Hwang, Myungji Kim, Hwanyong Choi, Jinseon Park, Minji Kim, Donghwan Kim, Bo Ram Lee, Jinah Jang   +7 more
wiley   +1 more source

Microfluidic Nano‐Assembly of Red‐Blood‐Cell (RBC) Lipids and Components for Engineering Extracellular Vesicles

Advanced Healthcare Materials, EarlyView.
Engineered red blood cell‐derived extracellular vesicles (eRBCEVs) are synthesized via controlled microfluidic assembly from native RBC lipids, enabling tunable encapsulation of proteins, nucleic acids, nanoparticles, and viral vectors. The platform demonstrates reproducible nanoscale architecture, preserved membrane composition, and functional cargo ...
Chiranth K. Nagaraj, Xilal Y. Rima, Kim T. Nguyen, Courtney Culkins, Nana Boateng, Jacob Doon‐Ralls, Alejandro Bresolin, Xin Huang, Hong Li, Vahedi Amid, Ajeet Pal Singh, Dharti Shantaram, Anastasiia Amari, Mangesh D. Hade, Nicholas R. Merriam, Zachary D. Schultz, Scott Q. Harper, Nizar Y. Saad, Setty M. Magaña, Willa A. Hsueh, Rachel E. Kopec, Blaise R. Kimmel, Andre F. Palmer, Eduardo Reátegui   +23 more
wiley   +1 more source

Mitochondrial dysfunction drives ZBP1-mediated PANoptosis to increase the susceptibility of heart failure with preserved ejection fraction-associated atrial fibrillation

Journal of Advanced Research
Introduction: Heart failure with preserved ejection fraction (HFpEF) is frequently complicated by atrial fibrillation (AF), but underlying molecular mechanisms remain poorly defined. Mitochondrial dysfunction drives ZBP1-mediated PANoptosis is crucial in
Jinfeng Duan, Zijun Cao, Zijun Zhou, Xinyi Huang, Jikai Zhao, Yuting Huang, Tao Huang, Shan Meng, Xin Chen, Tao Hong, Tong Su, Bo Xing, Liming Yu, Huishan Wang   +13 more
doaj   +1 more source

Cellular Responses to Mechanical Cues Across Scales: From Fundamental Insights to Translational Potential

Advanced Healthcare Materials, EarlyView.
This review examines how cellular behavior is regulated by mechanical cues transmitted through soft biomaterials, from single‐cell mechanosensing to tissue‐level adaptation. It highlights why physiological relevance, rather than model complexity alone, is critical for translational mechanobiology and introduces a scoring framework linking material ...
Mathias Polz, Manuel P. Kainz, Niklas Haider, Theresa Rienmüller, Kerstin Lenk, Rupert Kargl, Michele Terzano, Gerhard Sommer, Gerhard A. Holzapfel, Julia Fuchs   +9 more
wiley   +1 more source

The Roles of Mitochondria in Human Being’s Life and Aging

Biomolecules
The universe began 13.8 billion years ago, and Earth was born 4.6 billion years ago. Early traces of life were found as soon as 4.1 billion years ago; then, ~200,000 years ago, the human being was born.
Hiroko P. Indo, Moragot Chatatikun, Ikuo Nakanishi, Ken-ichiro Matsumoto, Motoki Imai, Fumitaka Kawakami, Makoto Kubo, Hiroshi Abe, Hiroshi Ichikawa, Yoshikazu Yonei, Hisashi J. Beppu, Yukiko Minamiyama, Takuro Kanekura, Takafumi Ichikawa, Atthaphong Phongphithakchai, Lunla Udomwech, Suriyan Sukati, Nurdina Charong, Voravuth Somsak, Jitbanjong Tangpong, Sachiyo Nomura, Hideyuki J. Majima   +21 more
doaj   +1 more source

Therapeutic Extracellular Vesicles from Synovial Fibroblast‐Primed MSCs for Osteoarthritis Treatment

Advanced Healthcare Materials, EarlyView.
EVs derived from the microenvironment of SFs transferred MSCs (miSF‐MSC‐EVs) enhanced the expression of miRNAs that regulate cell migration, cell adhesion, and the TGF‐β signaling pathway, demonstrating superior anti‐inflammatory and cartilage regeneration effects compared to conventional MSC‐EVs.
Seo Jeong Kim, Ji Seob Kim, Min Hee Moon, Jae‐Hyeok Jang, In Sun Hwang, Byung‐Hyun Cha   +5 more
wiley   +1 more source